Seeking confidence in the diagnosis of systemic AL (Ig light-chain) amyloidosis: patients can have both monoclonal gammopathies and hereditary amyloid proteins.

Abstract:

:Investigators in the United Kingdom have shown that hereditary amyloidosis can be misdiagnosed as Ig light-chain (AL) amyloidosis because family history is an ineffective screen, and tissue staining used to type amyloid is unreliable. Misdiagnosis of AL can lead to inappropriate use of chemotherapy and failure to diagnose a hereditary disease. Over a 3-year period we sought to determine how often both possible sources of amyloidosis occurred in the same patient. We employed an algorithm based on established data and patterns of amyloidosis in order to focus the screening effort. Of 178 consecutive patients referred for amyloidosis, 54 were screened by polymerase chain reaction techniques with primers designed to detect transthyretin, apolipoprotein AI, apolipoprotein AII, fibrinogen Aalpha, and lysozyme variants. Three patients (6% of those screened and 2% of symptomatic patients) had both a monoclonal gammopathy and a hereditary variant. These results justify further study of screening for hereditary variants in patients with apparent AL, and highlight the need for practical techniques for identifying fibrils extracted from tissue.

journal_name

Blood

journal_title

Blood

authors

Comenzo RL,Zhou P,Fleisher M,Clark B,Teruya-Feldstein J

doi

10.1182/blood-2005-10-4148

subject

Has Abstract

pub_date

2006-05-01 00:00:00

pages

3489-91

issue

9

eissn

0006-4971

issn

1528-0020

pii

2005-10-4148

journal_volume

107

pub_type

杂志文章

相关文献

BLOOD文献大全
  • Mechanisms of organelle transport and capture along proplatelets during platelet production.

    abstract::Megakaryocytes generate platelets by remodeling their cytoplasm into long proplatelet extensions, which serve as assembly lines for platelet production. Platelet packaging and release concludes at the tips of each proplatelet. Essential in this process is the distribution of organelles and platelet-specific granules i...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2005-06-2206

    authors: Richardson JL,Shivdasani RA,Boers C,Hartwig JH,Italiano JE Jr

    更新日期:2005-12-15 00:00:00

  • Characterization of nuclear factors that bind to a critical positive regulatory element of the human granulocyte-macrophage colony-stimulating factor promoter.

    abstract::Granulocyte-macrophage colony-stimulating factor (GM-CSF) is a hematopoietic growth factor that stimulates the proliferation, maturation, and functional activity of myeloid cells in peripheral blood and bone marrow. Expression of GM-CSF is tightly regulated and is limited to cells stimulated directly (T cells, macroph...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Fraser JK,Tran S,Nimer SD,Gasson JC

    更新日期:1994-10-15 00:00:00

  • Relationship between patterns of engraftment in peripheral blood and immune reconstitution after allogeneic bone marrow transplantation for (severe) combined immunodeficiency.

    abstract::We report the outcome of allogeneic bone marrow transplantation (BMT) as treatment for severe combined immunodeficiency disease (SCID) in 31 patients grafted from 1968 until 1992. The patients received a graft from an HLA-identical related (n = 10), an HLA-haplo-identical related (n = 19), or a closely HLA-matched unr...

    journal_title:Blood

    pub_type: 杂志文章,评审

    doi:

    authors: van Leeuwen JE,van Tol MJ,Joosten AM,Schellekens PT,van den Bergh RL,Waaijer JL,Oudeman-Gruber NJ,van der Weijden-Ragas CP,Roos MT,Gerritsen EJ

    更新日期:1994-12-01 00:00:00

  • A human monoclonal autoantibody recognizes a neoantigen on glycoprotein IIIa expressed on stored and activated platelets.

    abstract::We prepared a heterohybrid cell line that secretes a human IgM monoclonal autoantibody that recognizes an antigen found on thrombin-activated or stored platelets. The surface expression of the epitope recognized by this autoantibody, 5E5, increases with time as platelets age in vitro, suggesting that it may represent ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Nugent DJ,Kunicki TJ,Berglund C,Bernstein ID

    更新日期:1987-07-01 00:00:00

  • Elevated serum levels of interleukin-5 in patients with the syndrome of episodic angioedema and eosinophilia.

    abstract::The syndrome of episodic angioedema and eosinophilia is characterized by cyclic edema, marked peripheral blood eosinophilia, and eosinophil degranulation in the dermis. Using a sensitive immunoenzymetric method, we measured serum interleukin (IL)-5 levels in four patients with this syndrome. We also determined the per...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Butterfield JH,Leiferman KM,Abrams J,Silver JE,Bower J,Gonchoroff N,Gleich GJ

    更新日期:1992-02-01 00:00:00

  • Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study.

    abstract::Mucopolysaccharidosis type I-Hurler syndrome (MPS-IH) is a lysosomal storage disease characterized by multisystem morbidity and death in early childhood. Although hematopoietic cell transplantation (HCT) has been performed in these patients for more than 30 years, large studies on the long-term outcome of patients wit...

    journal_title:Blood

    pub_type: 杂志文章,多中心研究

    doi:10.1182/blood-2014-11-608075

    authors: Aldenhoven M,Wynn RF,Orchard PJ,O'Meara A,Veys P,Fischer A,Valayannopoulos V,Neven B,Rovelli A,Prasad VK,Tolar J,Allewelt H,Jones SA,Parini R,Renard M,Bordon V,Wulffraat NM,de Koning TJ,Shapiro EG,Kurtzberg J,Boel

    更新日期:2015-03-26 00:00:00

  • Low levels of tissue factor pathway inhibitor (TFPI) increase the risk of venous thrombosis.

    abstract::There is now strong experimental evidence that tissue factor pathway inhibitor (TFPI) is a critical inhibitor to modulate tissue factor-induced coagulation, but the role of TFPI as a risk factor for thrombosis is yet to be to be determined. This study investigated the role of low TFPI levels for the development of dee...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2002-10-3188

    authors: Dahm A,Van Hylckama Vlieg A,Bendz B,Rosendaal F,Bertina RM,Sandset PM

    更新日期:2003-06-01 00:00:00

  • Neurexophilin 1 suppresses the proliferation of hematopoietic progenitor cells.

    abstract::Neurexin I α (NRXN1α) and Dystroglycan (DAG1) are membrane receptors which serve as mutual ligands in the neuronal system. Neurexophilins (NXPHs) bind NRXN1α. NRXN1α was expressed in primitive populations in human CB (huCB) and murine BM (muBM). DAG1 is ubiquitously expressed in hematopoietic tissue; however, osteobla...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2010-12-325381

    authors: Kinzfogl J,Hangoc G,Broxmeyer HE

    更新日期:2011-07-21 00:00:00

  • Correction of hypercoagulability and amelioration of pulmonary arterial hypertension by chronic blood transfusion in an asplenic hemoglobin E/beta-thalassemia patient.

    abstract::Chronic transfusion of packed red blood cells, in addition to other ongoing treatment with warfarin, acetyl salicylic acid, desferrioxamine, and other supportive measures, was given to a splenectomized hemoglobin E/beta-thalassemia woman with pulmonary arterial hypertension (PHT). Serial measurements of plasma thrombi...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2003-09-3094

    authors: Atichartakarn V,Chuncharunee S,Chandanamattha P,Likittanasombat K,Aryurachai K

    更新日期:2004-04-01 00:00:00

  • Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns.

    abstract::Chronic lymphocytic leukemia is characterized by relapse after treatment and chemotherapy resistance. Similarly, in other malignancies leukemia cells accumulate mutations during growth, forming heterogeneous cell populations that are subject to Darwinian selection and may respond differentially to treatment. There is ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2012-05-433540

    authors: Schuh A,Becq J,Humphray S,Alexa A,Burns A,Clifford R,Feller SM,Grocock R,Henderson S,Khrebtukova I,Kingsbury Z,Luo S,McBride D,Murray L,Menju T,Timbs A,Ross M,Taylor J,Bentley D

    更新日期:2012-11-15 00:00:00

  • A monoclonal antibody that recognizes a neo-antigen exposed in the E domain of fibrin monomer complexed with fibrinogen or its derivatives: its application to the measurement of soluble fibrin in plasma.

    abstract::Using urea-solubilized human fibrin monomer as an immunogen, we raised in mice a battery of monoclonal antibodies that reacted with the immunogen but not with urea-treated or native fibrinogen. Although they all failed to react with acid-solubilized fibrin monomer (acid-FM) alone, an antibody designated as IF-43 was f...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Soe G,Kohno I,Inuzuka K,Itoh Y,Matsuda M

    更新日期:1996-09-15 00:00:00

  • Safety and persistence of WT1-specific T-cell receptor gene-transduced lymphocytes in patients with AML and MDS.

    abstract::Wilms' tumor 1 (WT1) is constantly expressed in leukemic cells of acute leukemia and myelodysplastic syndrome (MDS). A T-cell receptor (TCR) that specifically reacts with WT1 peptide in the context of HLA-A*24:02 has been identified. We conducted a first-in-human trial of TCR-gene transduced T-cell (TCR-T-cell) transf...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2017-06-791202

    authors: Tawara I,Kageyama S,Miyahara Y,Fujiwara H,Nishida T,Akatsuka Y,Ikeda H,Tanimoto K,Terakura S,Murata M,Inaguma Y,Masuya M,Inoue N,Kidokoro T,Okamoto S,Tomura D,Chono H,Nukaya I,Mineno J,Naoe T,Emi N,Yasukawa M,

    更新日期:2017-11-02 00:00:00

  • A TLR2 ligand suppresses inflammation by modulation of chemokine receptors and redirection of leukocyte migration.

    abstract::Toll-like receptors orchestrate rapid local protective innate-immune responses to invading pathogens and optimize leukocyte priming of subsequent adaptive responses. Paradoxically, systemic excess of the TLR2 ligand, bacterial lipoprotein (BLP), suppresses peripheral inflammatory responses. Here, we demonstrate that t...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2008-08-174698

    authors: McKimmie CS,Moore M,Fraser AR,Jamieson T,Xu D,Burt C,Pitman NI,Nibbs RJ,McInnes IB,Liew FY,Graham GJ

    更新日期:2009-04-30 00:00:00

  • Modulation of the folate receptor type beta gene by coordinate actions of retinoic acid receptors at activator Sp1/ets and repressor AP-1 sites.

    abstract::Folate receptor (FR) type beta is a promising target for therapeutic intervention in acute myelogenous leukemia (AML) owing particularly to its specific up-regulation in AML cells by all-trans retinoic acid (ATRA). Here we identify functional elements in the FR-beta gene and examine the molecular mechanism of transcri...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2002-10-3174

    authors: Hao H,Qi H,Ratnam M

    更新日期:2003-06-01 00:00:00

  • The Rac GTPase effector p21-activated kinase is essential for hematopoietic stem/progenitor cell migration and engraftment.

    abstract::The p21-activated kinases (Paks) are serine/threonine kinases that are major effectors of the Rho guanosine 5'\x{2011}triphosphatase, Rac, and Cdc42. Rac and Cdc42 are known regulators of hematopoietic stem and progenitor cell (HSPC) function, however, a direct role for Paks in HSPCs has yet to be elucidated. Lin(-)Sc...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2012-10-460709

    authors: Dorrance AM,De Vita S,Radu M,Reddy PN,McGuinness MK,Harris CE,Mathieu R,Lane SW,Kosoff R,Milsom MD,Chernoff J,Williams DA

    更新日期:2013-03-28 00:00:00

  • Differential mechanisms in the regulation of endogenous levels of thrombopoietin and interleukin-11 during thrombocytopenia: insight into the regulation of platelet production.

    abstract::The regulation of megakaryocytopoiesis and thrombopoiesis appears to be under the control of an array of hematopoietic growth factors. To determine the relationship of endogenous thrombopoietic cytokine levels and circulating platelet (PLT) counts, we measured the levels of thrombo-poietin (TPO), interleukin-11 (IL-11...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Chang M,Suen Y,Meng G,Buzby JS,Bussel J,Shen V,van de Ven C,Cairo MS

    更新日期:1996-11-01 00:00:00

  • Improvement in quality of life of patients with AL amyloidosis treated with high-dose melphalan and autologous stem cell transplantation.

    abstract::Treatment of AL amyloidosis patients with high-dose melphalan chemotherapy followed by autologous peripheral blood stem cell transplantation (HDM/SCT) can produce hematologic complete responses (CRs) and improvement in organ function. To determine whether these responses are accompanied by improvement in quality of li...

    journal_title:Blood

    pub_type: 临床试验,杂志文章

    doi:10.1182/blood-2004-01-0089

    authors: Seldin DC,Anderson JJ,Sanchorawala V,Malek K,Wright DG,Quillen K,Finn KT,Berk JL,Dember LM,Falk RH,Skinner M

    更新日期:2004-09-15 00:00:00

  • Polymorphisms of clotting factors modify the risk for primary intracranial hemorrhage.

    abstract::Intracranial hemorrhage is the third most frequent cause of cerebrovascular disease, but few genetic risk factors have been associated with its development. Recently, it has been reported that some polymorphisms that affect clotting factors increase the risk for thrombosis. However, reports have analyzed the effect of...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.v97.10.2979

    authors: Corral J,Iniesta JA,González-Conejero R,Villalón M,Vicente V

    更新日期:2001-05-15 00:00:00

  • The development of imatinib as a therapeutic agent for chronic myeloid leukemia.

    abstract::Imatinib has revolutionized drug therapy of chronic myeloid leukemia (CML). Preclinical studies were promising but the results of clinical trials by far exceeded expectations. Responses in chronic phase are unprecedented, with rates of complete cytogenetic response (CCR) of more than 40% in patients after failure of i...

    journal_title:Blood

    pub_type: 杂志文章,评审

    doi:10.1182/blood-2004-08-3097

    authors: Deininger M,Buchdunger E,Druker BJ

    更新日期:2005-04-01 00:00:00

  • Epstein-Barr virus latent membrane protein-1 oncogene deletions: correlations with malignancy in Epstein-Barr virus--associated lymphoproliferative disorders and malignant lymphomas.

    abstract::LMP-1, an Epstein-Barr viral (EBV) latency protein, is considered a viral oncogene because of its ability to transform rodent fibroblasts in vivo and render them tumorigenic in nude mice. In human B cells, EBV LMP-1 induces DNA synthesis and abrogates apoptosis. LMP-1 is expressed in EBV-transformed lymphoblastoid cel...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Kingma DW,Weiss WB,Jaffe ES,Kumar S,Frekko K,Raffeld M

    更新日期:1996-07-01 00:00:00

  • Retinoic acid controls blood vessel formation by modulating endothelial and mural cell interaction via suppression of Tie2 signaling in vascular progenitor cells.

    abstract::Inhibition by all-trans retinoic acid (atRA) of the microvasculature formation in chicken chorioallantoic membrane (CAM) accompanied remarkably reduced numbers of endothelial cells (ECs) and increased numbers of mural cells (MCs) under the chorionic epithelial layer. Ro41-5253 (retinoid antagonist) exerted the opposit...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2003-09-3293

    authors: Suzuki Y,Komi Y,Ashino H,Yamashita J,Inoue J,Yoshiki A,Eichmann A,Amanuma H,Kojima S

    更新日期:2004-07-01 00:00:00

  • Monoallelic and biallelic inactivation of TP53 gene in chronic lymphocytic leukemia: selection, impact on survival, and response to DNA damage.

    abstract::Deletion of TP53 gene, under routine assessment by fluorescence in situ hybridization analysis, connects with the worst prognosis in chronic lymphocytic leukemia (CLL). The presence of isolated TP53 mutation (without deletion) is associated with reduced survival in CLL patients. It is unclear how these abnormalities a...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2009-07-234708

    authors: Malcikova J,Smardova J,Rocnova L,Tichy B,Kuglik P,Vranova V,Cejkova S,Svitakova M,Skuhrova Francova H,Brychtova Y,Doubek M,Brejcha M,Klabusay M,Mayer J,Pospisilova S,Trbusek M

    更新日期:2009-12-17 00:00:00

  • Remodeling of the malaria parasite and host human red cell by vesicle amplification that induces artemisinin resistance.

    abstract::Artemisinin resistance threatens worldwide malaria control and elimination. Elevation of phosphatidylinositol-3-phosphate (PI3P) can induce resistance in blood stages of Plasmodium falciparum The parasite unfolded protein response (UPR) has also been implicated as a proteostatic mechanism that may diminish artemisinin...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2017-11-814665

    authors: Bhattacharjee S,Coppens I,Mbengue A,Suresh N,Ghorbal M,Slouka Z,Safeukui I,Tang HY,Speicher DW,Stahelin RV,Mohandas N,Haldar K

    更新日期:2018-03-15 00:00:00

  • Initial bone marrow reticulin fibrosis in polycythemia vera exerts an impact on clinical outcome.

    abstract::We examined the prevalence and prognostic relevance of bone marrow reticulin fibrosis in 526 patients with World Health Organization-defined polycythemia vera evaluated at the time of initial diagnosis. Seventy-four patients (14%) displayed mostly grade 1 reticulin fibrosis, with only 2 cases showing higher-grade fibr...

    journal_title:Blood

    pub_type: 杂志文章,多中心研究

    doi:10.1182/blood-2011-11-393819

    authors: Barbui T,Thiele J,Passamonti F,Rumi E,Boveri E,Randi ML,Bertozzi I,Marino F,Vannucchi AM,Pieri L,Rotunno G,Gisslinger H,Gisslinger B,Müllauer L,Finazzi G,Carobbio A,Gianatti A,Ruggeri M,Nichele I,D'Amore E,Rambald

    更新日期:2012-03-08 00:00:00

  • Platelet to leukocyte adherence phenomena associated with thrombocytopenia.

    abstract::Two patients developed thrombocytopenia associated with an in vitro platelet to leukocyte adherence phenomenon (PLAP). In one patient, whole serum, intact plasma, and the IgG fraction of the serum could induce the PLAP of normal platelets in normal whole blood or buffy coat preparations. Passage of serum over a Sephar...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Greipp PR,Gralnick HR

    更新日期:1976-03-01 00:00:00

  • Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B.

    abstract::Factor IXAlabama is a variant factor IX molecule responsible for a clinically moderate form of hemophilia B. Twenty-five kilobases (kb) of the variant gene, including seven exons coding for the structural protein, were cloned and characterized. The restriction map and the arrangement of coding regions are identical to...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Davis LM,McGraw RA,Ware JL,Roberts HR,Stafford DW

    更新日期:1987-01-01 00:00:00

  • Characterization of influenza A virus activation of the human neutrophil.

    abstract::Neutrophil dysfunction consequent to influenza A virus infection has been described in vivo and in vitro and may contribute to the serious bacterial sequelae which occur in influenza-infected hosts. On the premise that such dysfunction may represent a form of "deactivation," we sought to characterize neutrophil activa...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Hartshorn KL,Collamer M,White MR,Schwartz JH,Tauber AI

    更新日期:1990-01-01 00:00:00

  • Long-acting recombinant coagulation factor IX albumin fusion protein (rIX-FP) in hemophilia B: results of a phase 3 trial.

    abstract::A global phase 3 study evaluated the pharmacokinetics, efficacy, and safety of recombinant fusion protein linking coagulation factor IX with albumin (rIX-FP) in 63 previously treated male patients (12-61 years) with severe hemophilia B (factor IX [FIX] activity ≤2%). The study included 2 groups: group 1 patients recei...

    journal_title:Blood

    pub_type: 杂志文章,多中心研究

    doi:10.1182/blood-2015-09-669234

    authors: Santagostino E,Martinowitz U,Lissitchkov T,Pan-Petesch B,Hanabusa H,Oldenburg J,Boggio L,Negrier C,Pabinger I,von Depka Prondzinski M,Altisent C,Castaman G,Yamamoto K,Álvarez-Roman MT,Voigt C,Blackman N,Jacobs I,PROLONG

    更新日期:2016-04-07 00:00:00

  • Recurring chromosomal abnormalities in leukemia in PML-RARA transgenic mice parallel human acute promyelocytic leukemia.

    abstract::Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q11.2), which results in the PML-RARA fusion gene. In previous studies, we demonstrated that expression of a human PML-RARA complementary DNA in murine granulocyte precursor cells initiated the development of leukemia. However, leukemogenesis by P...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.v99.8.2985

    authors: Le Beau MM,Bitts S,Davis EM,Kogan SC

    更新日期:2002-04-15 00:00:00

  • Response to splenectomy in 65 patients with hairy cell leukemia: an evaluation of spleen weight and bone marrow involvement.

    abstract::Sixty-five patients with hairy cell leukemia underwent splenectomy; 27 had a complete remission as defined by a return in WBC, RBC, and platelet counts to a defined level, and 38 had a partial remission with a return of only one or two of these parameters to the defined level. The 5-yr actuarial survival for all patie...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Golomb HM,Vardiman JW

    更新日期:1983-02-01 00:00:00